U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    MFAP3L microfibril associated protein 3 like [ Homo sapiens (human) ]

    Gene ID: 9848, updated on 10-Dec-2024

    Summary

    Official Symbol
    MFAP3Lprovided by HGNC
    Official Full Name
    microfibril associated protein 3 likeprovided by HGNC
    Primary source
    HGNC:HGNC:29083
    See related
    Ensembl:ENSG00000198948 MIM:616523; AllianceGenome:HGNC:29083
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NYD-sp9
    Summary
    Located in several cellular components, including cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 7.1), brain (RPKM 6.1) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MFAP3L in Genome Data Viewer
    Location:
    4q33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (169986602..170027277, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (173346787..173390228, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (170907753..170947546, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900810 Neighboring gene uncharacterized LOC105377530 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:170840189-170840734 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:170840735-170841282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170845115-170845639 Neighboring gene long intergenic non-protein coding RNA 2275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:170897057-170897800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170947923-170948642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22146 Neighboring gene uncharacterized LOC101928198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170966616-170967155 Neighboring gene uncharacterized LOC107986326 Neighboring gene aminoadipate aminotransferase

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (11 hits/1259 screens)

    EBI GWAS Catalog

    Description
    Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cell junction  
    located_in cytoplasm PubMed 
    is_active_in neuron projection  
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    microfibrillar-associated protein 3-like
    Names
    microfi brillar-associated protein 3-like
    microfibrillar associated protein 3 like
    testis development protein NYD-SP9

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001009554.4NP_001009554.1  microfibrillar-associated protein 3-like isoform 2

      See identical proteins and their annotated locations for NP_001009554.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      AB014526, AF327560, BI459190
      Consensus CDS
      CCDS43281.1
      UniProtKB/Swiss-Prot
      O75121
      Related
      ENSP00000377307.3, ENST00000393704.3
      Conserved Domains (1) summary
      cd00096
      Location:236
      Ig; Immunoglobulin domain
    2. NM_001301647.2NP_001288576.1  microfibrillar-associated protein 3-like isoform 2

      See identical proteins and their annotated locations for NP_001288576.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      AB014526, DA324165, DA412844
      Consensus CDS
      CCDS43281.1
      UniProtKB/Swiss-Prot
      O75121
      Conserved Domains (1) summary
      cd00096
      Location:236
      Ig; Immunoglobulin domain
    3. NM_001301648.2NP_001288577.1  microfibrillar-associated protein 3-like isoform 2

      See identical proteins and their annotated locations for NP_001288577.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      AB014526, BI459190, DB026038
      Consensus CDS
      CCDS43281.1
      UniProtKB/Swiss-Prot
      O75121
      Conserved Domains (1) summary
      cd00096
      Location:236
      Ig; Immunoglobulin domain
    4. NM_021647.8NP_067679.6  microfibrillar-associated protein 3-like isoform 1 precursor

      See identical proteins and their annotated locations for NP_067679.6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB014526, DA324165
      Consensus CDS
      CCDS34103.1
      UniProtKB/Swiss-Prot
      A8K1X6, D3DP35, O75121, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0
      Related
      ENSP00000354583.3, ENST00000361618.4
      Conserved Domains (1) summary
      pfam13927
      Location:47129
      Ig_3; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      169986602..170027277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416460.1XP_047272416.1  microfibrillar-associated protein 3-like isoform X3

      UniProtKB/Swiss-Prot
      A8K1X6, D3DP35, O75121, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0
    2. XM_017008867.3XP_016864356.1  microfibrillar-associated protein 3-like isoform X2

    3. XM_017008865.3XP_016864354.1  microfibrillar-associated protein 3-like isoform X2

    4. XM_017008864.3XP_016864353.1  microfibrillar-associated protein 3-like isoform X2

    5. XM_017008871.2XP_016864360.1  microfibrillar-associated protein 3-like isoform X3

      UniProtKB/Swiss-Prot
      A8K1X6, D3DP35, O75121, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0
      Conserved Domains (1) summary
      pfam13927
      Location:47129
      Ig_3; Immunoglobulin domain
    6. XM_005263366.4XP_005263423.1  microfibrillar-associated protein 3-like isoform X1

      Conserved Domains (1) summary
      smart00409
      Location:88175
      IG; Immunoglobulin
    7. XM_017008866.2XP_016864355.1  microfibrillar-associated protein 3-like isoform X2

    8. XM_047416459.1XP_047272415.1  microfibrillar-associated protein 3-like isoform X2

    9. XM_047416461.1XP_047272417.1  microfibrillar-associated protein 3-like isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      173346787..173390228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351330.1XP_054207305.1  microfibrillar-associated protein 3-like isoform X2

    2. XM_054351331.1XP_054207306.1  microfibrillar-associated protein 3-like isoform X2

    3. XM_054351332.1XP_054207307.1  microfibrillar-associated protein 3-like isoform X2

    4. XM_054351335.1XP_054207310.1  microfibrillar-associated protein 3-like isoform X3

      UniProtKB/Swiss-Prot
      A8K1X6, D3DP35, O75121, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0
    5. XM_054351328.1XP_054207303.1  microfibrillar-associated protein 3-like isoform X1

    6. XM_054351329.1XP_054207304.1  microfibrillar-associated protein 3-like isoform X2

    7. XM_054351333.1XP_054207308.1  microfibrillar-associated protein 3-like isoform X2

    8. XM_054351334.1XP_054207309.1  microfibrillar-associated protein 3-like isoform X4

    External link. Please review our privacy policy.